Valentina Emmanuele

Valentina Emmanuele

Pediatric Neurology | Neuromusculoskeletal Medicine

180 Fort Washington Avenue
New York, NY 10032

Last Updated: 09/26/2026

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Found 33 publications

Use of nucleoside therapy for mitochondrial DNA depletion/deletion syndrome (MDDS).

Use of nucleoside therapy for mitochondrial DNA depletion/deletion syndrome (MDDS).

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: June 23, 2026

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report.

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report.

Journal: American journal of medical genetics. Part A

Published: February 21, 2026

Updates on Mitochondrial Myopathies.

Updates on Mitochondrial Myopathies.

Journal: Current neurology and neuroscience reports

Published: July 28, 2025

Rhabdomyolysis due to mtDNA pathogenic variants: Report of a subject with a novel MT-CO3 variant and review of the literature.

Rhabdomyolysis due to mtDNA pathogenic variants: Report of a subject with a novel MT-CO3 variant and review of the literature.

Journal: Molecular genetics and metabolism

Published: July 27, 2025

Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female.

Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female.

Journal: Molecular genetics and metabolism reports

Published: May 20, 2025

When transfusion causes a splitting headache: A case report and rapid review of transfusion-associated reversible cerebral vasoconstriction syndrome.

When transfusion causes a splitting headache: A case report and rapid review of transfusion-associated reversible cerebral vasoconstriction syndrome.

Journal: Transfusion

Published: March 31, 2024

Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.

Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.

Journal: Neurology. Genetics

Published: October 11, 2022

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

Journal: Molecular genetics and metabolism

Published: March 13, 2022

Alzheimer's-Associated Upregulation of Mitochondria-Associated ER Membranes After Traumatic Brain Injury.

Alzheimer's-Associated Upregulation of Mitochondria-Associated ER Membranes After Traumatic Brain Injury.

Journal: Cellular and molecular neurobiology

Published: November 28, 2021

Regulatory environment for novel therapeutic development in mitochondrial diseases.

Regulatory environment for novel therapeutic development in mitochondrial diseases.

Journal: Journal of inherited metabolic disease

Published: September 18, 2020

Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy.

Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: December 17, 2019

Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.

Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.

Journal: Journal of neurology

Published: September 01, 2019

Showing 1-12 of 33

Last Updated: 09/26/2026